U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1042

1.

rs1489723565 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:63408457 (GRCh38)
    20:62039810 (GRCh37)
    Canonical SPDI:
    NC_000020.11:63408456:C:T
    Gene:
    KCNQ2 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000020.11:g.63408457C>T, NC_000020.10:g.62039810C>T, NG_009004.2:g.69184G>A, NM_004518.6:c.1759G>A, NM_004518.5:c.1759G>A, NM_004518.4:c.1759G>A, NM_172108.5:c.1750G>A, NM_172108.4:c.1750G>A, NM_172108.3:c.1750G>A, NM_172107.4:c.1843G>A, NM_172107.3:c.1843G>A, NM_172107.2:c.1843G>A, NM_172106.3:c.1789G>A, NM_172106.2:c.1789G>A, NM_172106.1:c.1789G>A, NM_001382235.1:c.1897G>A, XM_017027841.3:c.1894G>A, XM_017027841.2:c.1894G>A, XM_017027841.1:c.1894G>A, XM_011528811.3:c.1867G>A, XM_011528811.2:c.1867G>A, XM_011528811.1:c.1867G>A, XM_017027842.3:c.1831G>A, XM_017027842.2:c.1831G>A, XM_017027842.1:c.1831G>A, XM_017027844.3:c.1786G>A, XM_017027844.2:c.1786G>A, XM_017027844.1:c.1786G>A, XM_017027843.2:c.1828G>A, XM_017027843.1:c.1828G>A, XM_017027845.2:c.859G>A, XM_017027845.1:c.859G>A, XM_047440144.1:c.1864G>A, XM_047440145.1:c.1756G>A, NP_004509.2:p.Glu587Lys, NP_742106.1:p.Glu584Lys, NP_742105.1:p.Glu615Lys, NP_742104.1:p.Glu597Lys, NP_001369164.1:p.Glu633Lys, XP_016883330.1:p.Glu632Lys, XP_011527113.1:p.Glu623Lys, XP_016883331.1:p.Glu611Lys, XP_016883333.1:p.Glu596Lys, XP_016883332.1:p.Glu610Lys, XP_016883334.1:p.Glu287Lys, XP_047296100.1:p.Glu622Lys, XP_047296101.1:p.Glu586Lys

    2.

    rs1489310306 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      20:63407363 (GRCh38)
      20:62038716 (GRCh37)
      Canonical SPDI:
      NC_000020.11:63407362:C:G
      Gene:
      KCNQ2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000020.11:g.63407363C>G, NC_000020.10:g.62038716C>G, NG_009004.2:g.70278G>C, NM_004518.6:c.1816G>C, NM_004518.5:c.1816G>C, NM_004518.4:c.1816G>C, NM_172108.5:c.1807G>C, NM_172108.4:c.1807G>C, NM_172108.3:c.1807G>C, NM_172107.4:c.1900G>C, NM_172107.3:c.1900G>C, NM_172107.2:c.1900G>C, NM_172106.3:c.1846G>C, NM_172106.2:c.1846G>C, NM_172106.1:c.1846G>C, NM_001382235.1:c.1954G>C, XM_017027841.3:c.1951G>C, XM_017027841.2:c.1951G>C, XM_017027841.1:c.1951G>C, XM_011528811.3:c.1924G>C, XM_011528811.2:c.1924G>C, XM_011528811.1:c.1924G>C, XM_017027842.3:c.1888G>C, XM_017027842.2:c.1888G>C, XM_017027842.1:c.1888G>C, XM_017027844.3:c.1843G>C, XM_017027844.2:c.1843G>C, XM_017027844.1:c.1843G>C, XM_017027843.2:c.1885G>C, XM_017027843.1:c.1885G>C, XM_017027845.2:c.916G>C, XM_017027845.1:c.916G>C, XM_047440144.1:c.1921G>C, XM_047440145.1:c.1813G>C, NP_004509.2:p.Glu606Gln, NP_742106.1:p.Glu603Gln, NP_742105.1:p.Glu634Gln, NP_742104.1:p.Glu616Gln, NP_001369164.1:p.Glu652Gln, XP_016883330.1:p.Glu651Gln, XP_011527113.1:p.Glu642Gln, XP_016883331.1:p.Glu630Gln, XP_016883333.1:p.Glu615Gln, XP_016883332.1:p.Glu629Gln, XP_016883334.1:p.Glu306Gln, XP_047296100.1:p.Glu641Gln, XP_047296101.1:p.Glu605Gln

      3.

      rs1486591438 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:63419643 (GRCh38)
        20:62050996 (GRCh37)
        Canonical SPDI:
        NC_000020.11:63419642:C:T
        Gene:
        KCNQ2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
        HGVS:

        4.

        rs1485360310 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          20:63406929 (GRCh38)
          20:62038282 (GRCh37)
          Canonical SPDI:
          NC_000020.11:63406928:C:T
          Gene:
          KCNQ2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000020.11:g.63406929C>T, NC_000020.10:g.62038282C>T, NG_009004.2:g.70712G>A, NM_004518.6:c.2250G>A, NM_004518.5:c.2250G>A, NM_004518.4:c.2250G>A, NM_172108.5:c.2241G>A, NM_172108.4:c.2241G>A, NM_172108.3:c.2241G>A, NM_172107.4:c.2334G>A, NM_172107.3:c.2334G>A, NM_172107.2:c.2334G>A, NM_172106.3:c.2280G>A, NM_172106.2:c.2280G>A, NM_172106.1:c.2280G>A, NM_001382235.1:c.2388G>A, XM_017027841.3:c.2385G>A, XM_017027841.2:c.2385G>A, XM_017027841.1:c.2385G>A, XM_011528811.3:c.2358G>A, XM_011528811.2:c.2358G>A, XM_011528811.1:c.2358G>A, XM_017027842.3:c.2322G>A, XM_017027842.2:c.2322G>A, XM_017027842.1:c.2322G>A, XM_017027844.3:c.2277G>A, XM_017027844.2:c.2277G>A, XM_017027844.1:c.2277G>A, XM_017027843.2:c.2319G>A, XM_017027843.1:c.2319G>A, XM_017027845.2:c.1350G>A, XM_017027845.1:c.1350G>A, XM_047440144.1:c.2355G>A, XM_047440145.1:c.2247G>A

          5.

          rs1482466861 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            20:63439600 (GRCh38)
            20:62070953 (GRCh37)
            Canonical SPDI:
            NC_000020.11:63439599:C:A
            Gene:
            KCNQ2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000020.11:g.63439600C>A, NC_000020.10:g.62070953C>A, NG_009004.2:g.38041G>T, NM_004518.6:c.925G>T, NM_004518.5:c.925G>T, NM_004518.4:c.925G>T, NM_172108.5:c.925G>T, NM_172108.4:c.925G>T, NM_172108.3:c.925G>T, NM_172107.4:c.925G>T, NM_172107.3:c.925G>T, NM_172107.2:c.925G>T, NM_172106.3:c.925G>T, NM_172106.2:c.925G>T, NM_172106.1:c.925G>T, NM_172109.3:c.925G>T, NM_172109.2:c.925G>T, NM_172109.1:c.925G>T, NM_001382235.1:c.925G>T, NT_187625.1:g.24883C>A, XM_017027841.3:c.925G>T, XM_017027841.2:c.925G>T, XM_017027841.1:c.925G>T, XM_011528811.3:c.925G>T, XM_011528811.2:c.925G>T, XM_011528811.1:c.925G>T, XM_017027842.3:c.925G>T, XM_017027842.2:c.925G>T, XM_017027842.1:c.925G>T, XM_017027844.3:c.925G>T, XM_017027844.2:c.925G>T, XM_017027844.1:c.925G>T, XM_017027843.2:c.856G>T, XM_017027843.1:c.856G>T, XM_047440144.1:c.925G>T, XM_047440145.1:c.925G>T, NP_004509.2:p.Ala309Ser, NP_742106.1:p.Ala309Ser, NP_742105.1:p.Ala309Ser, NP_742104.1:p.Ala309Ser, NP_742107.1:p.Ala309Ser, NP_001369164.1:p.Ala309Ser, XP_016883330.1:p.Ala309Ser, XP_011527113.1:p.Ala309Ser, XP_016883331.1:p.Ala309Ser, XP_016883333.1:p.Ala309Ser, XP_016883332.1:p.Ala286Ser, XP_047296100.1:p.Ala309Ser, XP_047296101.1:p.Ala309Ser

            6.

            rs1482105369 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              20:63472250 (GRCh38)
              20:62103603 (GRCh37)
              Canonical SPDI:
              NC_000020.11:63472249:C:A,NC_000020.11:63472249:C:T
              Gene:
              KCNQ2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000007/1 (GnomAD_exomes)
              HGVS:
              NC_000020.11:g.63472250C>A, NC_000020.11:g.63472250C>T, NC_000020.10:g.62103603C>A, NC_000020.10:g.62103603C>T, NG_009004.2:g.5391G>T, NG_009004.2:g.5391G>A, NM_004518.6:c.214G>T, NM_004518.6:c.214G>A, NM_004518.5:c.214G>T, NM_004518.5:c.214G>A, NM_004518.4:c.214G>T, NM_004518.4:c.214G>A, NM_172108.5:c.214G>T, NM_172108.5:c.214G>A, NM_172108.4:c.214G>T, NM_172108.4:c.214G>A, NM_172108.3:c.214G>T, NM_172108.3:c.214G>A, NM_172107.4:c.214G>T, NM_172107.4:c.214G>A, NM_172107.3:c.214G>T, NM_172107.3:c.214G>A, NM_172107.2:c.214G>T, NM_172107.2:c.214G>A, NM_172106.3:c.214G>T, NM_172106.3:c.214G>A, NM_172106.2:c.214G>T, NM_172106.2:c.214G>A, NM_172106.1:c.214G>T, NM_172106.1:c.214G>A, NM_172109.3:c.214G>T, NM_172109.3:c.214G>A, NM_172109.2:c.214G>T, NM_172109.2:c.214G>A, NM_172109.1:c.214G>T, NM_172109.1:c.214G>A, NM_001382235.1:c.214G>T, NM_001382235.1:c.214G>A, XM_017027841.3:c.214G>T, XM_017027841.3:c.214G>A, XM_017027841.2:c.214G>T, XM_017027841.2:c.214G>A, XM_017027841.1:c.214G>T, XM_017027841.1:c.214G>A, XM_011528811.3:c.214G>T, XM_011528811.3:c.214G>A, XM_011528811.2:c.214G>T, XM_011528811.2:c.214G>A, XM_011528811.1:c.214G>T, XM_011528811.1:c.214G>A, XM_017027842.3:c.214G>T, XM_017027842.3:c.214G>A, XM_017027842.2:c.214G>T, XM_017027842.2:c.214G>A, XM_017027842.1:c.214G>T, XM_017027842.1:c.214G>A, XM_017027844.3:c.214G>T, XM_017027844.3:c.214G>A, XM_017027844.2:c.214G>T, XM_017027844.2:c.214G>A, XM_017027844.1:c.214G>T, XM_017027844.1:c.214G>A, XM_047440144.1:c.214G>T, XM_047440144.1:c.214G>A, XM_047440145.1:c.214G>T, XM_047440145.1:c.214G>A, NP_004509.2:p.Ala72Ser, NP_004509.2:p.Ala72Thr, NP_742106.1:p.Ala72Ser, NP_742106.1:p.Ala72Thr, NP_742105.1:p.Ala72Ser, NP_742105.1:p.Ala72Thr, NP_742104.1:p.Ala72Ser, NP_742104.1:p.Ala72Thr, NP_742107.1:p.Ala72Ser, NP_742107.1:p.Ala72Thr, NP_001369164.1:p.Ala72Ser, NP_001369164.1:p.Ala72Thr, XP_016883330.1:p.Ala72Ser, XP_016883330.1:p.Ala72Thr, XP_011527113.1:p.Ala72Ser, XP_011527113.1:p.Ala72Thr, XP_016883331.1:p.Ala72Ser, XP_016883331.1:p.Ala72Thr, XP_016883333.1:p.Ala72Ser, XP_016883333.1:p.Ala72Thr, XP_047296100.1:p.Ala72Ser, XP_047296100.1:p.Ala72Thr, XP_047296101.1:p.Ala72Ser, XP_047296101.1:p.Ala72Thr

              7.

              rs1481212168 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                20:63407034 (GRCh38)
                20:62038387 (GRCh37)
                Canonical SPDI:
                NC_000020.11:63407033:C:A,NC_000020.11:63407033:C:T
                Gene:
                KCNQ2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/1 (GnomAD_exomes)
                HGVS:
                NC_000020.11:g.63407034C>A, NC_000020.11:g.63407034C>T, NC_000020.10:g.62038387C>A, NC_000020.10:g.62038387C>T, NG_009004.2:g.70607G>T, NG_009004.2:g.70607G>A, NM_004518.6:c.2145G>T, NM_004518.6:c.2145G>A, NM_004518.5:c.2145G>T, NM_004518.5:c.2145G>A, NM_004518.4:c.2145G>T, NM_004518.4:c.2145G>A, NM_172108.5:c.2136G>T, NM_172108.5:c.2136G>A, NM_172108.4:c.2136G>T, NM_172108.4:c.2136G>A, NM_172108.3:c.2136G>T, NM_172108.3:c.2136G>A, NM_172107.4:c.2229G>T, NM_172107.4:c.2229G>A, NM_172107.3:c.2229G>T, NM_172107.3:c.2229G>A, NM_172107.2:c.2229G>T, NM_172107.2:c.2229G>A, NM_172106.3:c.2175G>T, NM_172106.3:c.2175G>A, NM_172106.2:c.2175G>T, NM_172106.2:c.2175G>A, NM_172106.1:c.2175G>T, NM_172106.1:c.2175G>A, NM_001382235.1:c.2283G>T, NM_001382235.1:c.2283G>A, XM_017027841.3:c.2280G>T, XM_017027841.3:c.2280G>A, XM_017027841.2:c.2280G>T, XM_017027841.2:c.2280G>A, XM_017027841.1:c.2280G>T, XM_017027841.1:c.2280G>A, XM_011528811.3:c.2253G>T, XM_011528811.3:c.2253G>A, XM_011528811.2:c.2253G>T, XM_011528811.2:c.2253G>A, XM_011528811.1:c.2253G>T, XM_011528811.1:c.2253G>A, XM_017027842.3:c.2217G>T, XM_017027842.3:c.2217G>A, XM_017027842.2:c.2217G>T, XM_017027842.2:c.2217G>A, XM_017027842.1:c.2217G>T, XM_017027842.1:c.2217G>A, XM_017027844.3:c.2172G>T, XM_017027844.3:c.2172G>A, XM_017027844.2:c.2172G>T, XM_017027844.2:c.2172G>A, XM_017027844.1:c.2172G>T, XM_017027844.1:c.2172G>A, XM_017027843.2:c.2214G>T, XM_017027843.2:c.2214G>A, XM_017027843.1:c.2214G>T, XM_017027843.1:c.2214G>A, XM_017027845.2:c.1245G>T, XM_017027845.2:c.1245G>A, XM_017027845.1:c.1245G>T, XM_017027845.1:c.1245G>A, XM_047440144.1:c.2250G>T, XM_047440144.1:c.2250G>A, XM_047440145.1:c.2142G>T, XM_047440145.1:c.2142G>A

                8.

                rs1479290036 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  20:63406788 (GRCh38)
                  20:62038141 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:63406787:C:T
                  Gene:
                  KCNQ2 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  Clinical significance:
                  likely-benign
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000020.11:g.63406788C>T, NC_000020.10:g.62038141C>T, NG_009004.2:g.70853G>A, NM_004518.6:c.2391G>A, NM_004518.5:c.2391G>A, NM_004518.4:c.2391G>A, NM_172108.5:c.2382G>A, NM_172108.4:c.2382G>A, NM_172108.3:c.2382G>A, NM_172107.4:c.2475G>A, NM_172107.3:c.2475G>A, NM_172107.2:c.2475G>A, NM_172106.3:c.2421G>A, NM_172106.2:c.2421G>A, NM_172106.1:c.2421G>A, NM_001382235.1:c.2529G>A, XM_017027841.3:c.2526G>A, XM_017027841.2:c.2526G>A, XM_017027841.1:c.2526G>A, XM_011528811.3:c.2499G>A, XM_011528811.2:c.2499G>A, XM_011528811.1:c.2499G>A, XM_017027842.3:c.2463G>A, XM_017027842.2:c.2463G>A, XM_017027842.1:c.2463G>A, XM_017027844.3:c.2418G>A, XM_017027844.2:c.2418G>A, XM_017027844.1:c.2418G>A, XM_017027843.2:c.2460G>A, XM_017027843.1:c.2460G>A, XM_017027845.2:c.1491G>A, XM_017027845.1:c.1491G>A, XM_047440144.1:c.2496G>A, XM_047440145.1:c.2388G>A

                  9.

                  rs1477570175 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    20:63414988 (GRCh38)
                    20:62046341 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:63414987:C:T
                    Gene:
                    KCNQ2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000020.11:g.63414988C>T, NC_000020.10:g.62046341C>T, NG_009004.2:g.62653G>A, NM_004518.6:c.1356G>A, NM_004518.5:c.1356G>A, NM_004518.4:c.1356G>A, NM_172108.5:c.1350G>A, NM_172108.4:c.1350G>A, NM_172108.3:c.1350G>A, NM_172107.4:c.1440G>A, NM_172107.3:c.1440G>A, NM_172107.2:c.1440G>A, NM_172106.3:c.1386G>A, NM_172106.2:c.1386G>A, NM_172106.1:c.1386G>A, NM_001382235.1:c.1386G>A, NT_187625.1:g.268C>T, XM_017027841.3:c.1386G>A, XM_017027841.2:c.1386G>A, XM_017027841.1:c.1386G>A, XM_011528811.3:c.1356G>A, XM_011528811.2:c.1356G>A, XM_011528811.1:c.1356G>A, XM_017027842.3:c.1386G>A, XM_017027842.2:c.1386G>A, XM_017027842.1:c.1386G>A, XM_017027844.3:c.1386G>A, XM_017027844.2:c.1386G>A, XM_017027844.1:c.1386G>A, XM_017027843.2:c.1317G>A, XM_017027843.1:c.1317G>A, XM_017027845.2:c.348G>A, XM_017027845.1:c.348G>A, XM_047440145.1:c.1356G>A, XM_047440144.1:c.1356G>A

                    10.

                    rs1477376003 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      20:63414192 (GRCh38)
                      20:62045545 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:63414191:T:C
                      Gene:
                      KCNQ2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,splice_acceptor_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1477180427 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        20:63415013 (GRCh38)
                        20:62046366 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:63415012:C:T
                        Gene:
                        KCNQ2 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000020.11:g.63415013C>T, NC_000020.10:g.62046366C>T, NG_009004.2:g.62628G>A, NM_004518.6:c.1331G>A, NM_004518.5:c.1331G>A, NM_004518.4:c.1331G>A, NM_172108.5:c.1325G>A, NM_172108.4:c.1325G>A, NM_172108.3:c.1325G>A, NM_172107.4:c.1415G>A, NM_172107.3:c.1415G>A, NM_172107.2:c.1415G>A, NM_172106.3:c.1361G>A, NM_172106.2:c.1361G>A, NM_172106.1:c.1361G>A, NM_001382235.1:c.1361G>A, NT_187625.1:g.293C>T, XM_017027841.3:c.1361G>A, XM_017027841.2:c.1361G>A, XM_017027841.1:c.1361G>A, XM_011528811.3:c.1331G>A, XM_011528811.2:c.1331G>A, XM_011528811.1:c.1331G>A, XM_017027842.3:c.1361G>A, XM_017027842.2:c.1361G>A, XM_017027842.1:c.1361G>A, XM_017027844.3:c.1361G>A, XM_017027844.2:c.1361G>A, XM_017027844.1:c.1361G>A, XM_017027843.2:c.1292G>A, XM_017027843.1:c.1292G>A, XM_017027845.2:c.323G>A, XM_017027845.1:c.323G>A, XM_047440145.1:c.1331G>A, XM_047440144.1:c.1331G>A, NP_004509.2:p.Ser444Asn, NP_742106.1:p.Ser442Asn, NP_742105.1:p.Ser472Asn, NP_742104.1:p.Ser454Asn, NP_001369164.1:p.Ser454Asn, XP_016883330.1:p.Ser454Asn, XP_011527113.1:p.Ser444Asn, XP_016883331.1:p.Ser454Asn, XP_016883333.1:p.Ser454Asn, XP_016883332.1:p.Ser431Asn, XP_016883334.1:p.Ser108Asn, XP_047296101.1:p.Ser444Asn, XP_047296100.1:p.Ser444Asn

                        12.

                        rs1476142623 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          20:63414113 (GRCh38)
                          20:62045466 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:63414112:G:A
                          Gene:
                          KCNQ2 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          NC_000020.11:g.63414113G>A, NC_000020.10:g.62045466G>A, NG_009004.2:g.63528C>T, NM_004518.6:c.1522C>T, NM_004518.5:c.1522C>T, NM_004518.4:c.1522C>T, NM_172108.5:c.1513C>T, NM_172108.4:c.1513C>T, NM_172108.3:c.1513C>T, NM_172107.4:c.1606C>T, NM_172107.3:c.1606C>T, NM_172107.2:c.1606C>T, NM_172106.3:c.1552C>T, NM_172106.2:c.1552C>T, NM_172106.1:c.1552C>T, NM_001382235.1:c.1552C>T, XM_017027841.3:c.1549C>T, XM_017027841.2:c.1549C>T, XM_017027841.1:c.1549C>T, XM_011528811.3:c.1522C>T, XM_011528811.2:c.1522C>T, XM_011528811.1:c.1522C>T, XM_017027842.3:c.1552C>T, XM_017027842.2:c.1552C>T, XM_017027842.1:c.1552C>T, XM_017027844.3:c.1549C>T, XM_017027844.2:c.1549C>T, XM_017027844.1:c.1549C>T, XM_017027843.2:c.1483C>T, XM_017027843.1:c.1483C>T, XM_017027845.2:c.514C>T, XM_017027845.1:c.514C>T, XM_047440144.1:c.1519C>T, XM_047440145.1:c.1519C>T, NP_004509.2:p.Leu508Phe, NP_742106.1:p.Leu505Phe, NP_742105.1:p.Leu536Phe, NP_742104.1:p.Leu518Phe, NP_001369164.1:p.Leu518Phe, XP_016883330.1:p.Leu517Phe, XP_011527113.1:p.Leu508Phe, XP_016883331.1:p.Leu518Phe, XP_016883333.1:p.Leu517Phe, XP_016883332.1:p.Leu495Phe, XP_016883334.1:p.Leu172Phe, XP_047296100.1:p.Leu507Phe, XP_047296101.1:p.Leu507Phe

                          13.

                          rs1473938948 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            20:63428424 (GRCh38)
                            20:62059777 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:63428423:G:C,NC_000020.11:63428423:G:T
                            Gene:
                            KCNQ2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000224/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            T=0.000035/1 (TOMMO)
                            C=0.000223/1 (Estonian)
                            HGVS:
                            NC_000020.11:g.63428424G>C, NC_000020.11:g.63428424G>T, NC_000020.10:g.62059777G>C, NC_000020.10:g.62059777G>T, NG_009004.2:g.49217C>G, NG_009004.2:g.49217C>A, NM_004518.6:c.1130C>G, NM_004518.6:c.1130C>A, NM_004518.5:c.1130C>G, NM_004518.5:c.1130C>A, NM_004518.4:c.1130C>G, NM_004518.4:c.1130C>A, NM_172108.5:c.1160C>G, NM_172108.5:c.1160C>A, NM_172108.4:c.1160C>G, NM_172108.4:c.1160C>A, NM_172108.3:c.1160C>G, NM_172108.3:c.1160C>A, NM_172107.4:c.1160C>G, NM_172107.4:c.1160C>A, NM_172107.3:c.1160C>G, NM_172107.3:c.1160C>A, NM_172107.2:c.1160C>G, NM_172107.2:c.1160C>A, NM_172106.3:c.1160C>G, NM_172106.3:c.1160C>A, NM_172106.2:c.1160C>G, NM_172106.2:c.1160C>A, NM_172106.1:c.1160C>G, NM_172106.1:c.1160C>A, NM_001382235.1:c.1160C>G, NM_001382235.1:c.1160C>A, NT_187625.1:g.13704G>C, NT_187625.1:g.13704G>T, XM_017027842.3:c.1160C>G, XM_017027842.3:c.1160C>A, XM_017027842.2:c.1160C>G, XM_017027842.2:c.1160C>A, XM_017027842.1:c.1160C>G, XM_017027842.1:c.1160C>A, XM_017027841.3:c.1160C>G, XM_017027841.3:c.1160C>A, XM_017027841.2:c.1160C>G, XM_017027841.2:c.1160C>A, XM_017027841.1:c.1160C>G, XM_017027841.1:c.1160C>A, XM_011528811.3:c.1130C>G, XM_011528811.3:c.1130C>A, XM_011528811.2:c.1130C>G, XM_011528811.2:c.1130C>A, XM_011528811.1:c.1130C>G, XM_011528811.1:c.1130C>A, XM_017027844.3:c.1160C>G, XM_017027844.3:c.1160C>A, XM_017027844.2:c.1160C>G, XM_017027844.2:c.1160C>A, XM_017027844.1:c.1160C>G, XM_017027844.1:c.1160C>A, XM_017027843.2:c.1091C>G, XM_017027843.2:c.1091C>A, XM_017027843.1:c.1091C>G, XM_017027843.1:c.1091C>A, XM_047440144.1:c.1130C>G, XM_047440144.1:c.1130C>A, XM_047440145.1:c.1130C>G, XM_047440145.1:c.1130C>A, NP_004509.2:p.Pro377Arg, NP_004509.2:p.Pro377Gln, NP_742106.1:p.Pro387Arg, NP_742106.1:p.Pro387Gln, NP_742105.1:p.Pro387Arg, NP_742105.1:p.Pro387Gln, NP_742104.1:p.Pro387Arg, NP_742104.1:p.Pro387Gln, NP_001369164.1:p.Pro387Arg, NP_001369164.1:p.Pro387Gln, XP_016883331.1:p.Pro387Arg, XP_016883331.1:p.Pro387Gln, XP_016883330.1:p.Pro387Arg, XP_016883330.1:p.Pro387Gln, XP_011527113.1:p.Pro377Arg, XP_011527113.1:p.Pro377Gln, XP_016883333.1:p.Pro387Arg, XP_016883333.1:p.Pro387Gln, XP_016883332.1:p.Pro364Arg, XP_016883332.1:p.Pro364Gln, XP_047296100.1:p.Pro377Arg, XP_047296100.1:p.Pro377Gln, XP_047296101.1:p.Pro377Arg, XP_047296101.1:p.Pro377Gln

                            14.

                            rs1472366685 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              20:63444668 (GRCh38)
                              20:62076021 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:63444667:G:A,NC_000020.11:63444667:G:T
                              Gene:
                              KCNQ2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                              Clinical significance:
                              likely-benign
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              T=0./0 (KOREAN)
                              A=0.000016/3 (GnomAD_exomes)
                              T=0.000142/2 (TOMMO)
                              HGVS:
                              NC_000020.11:g.63444668G>A, NC_000020.11:g.63444668G>T, NC_000020.10:g.62076021G>A, NC_000020.10:g.62076021G>T, NG_009004.2:g.32973C>T, NG_009004.2:g.32973C>A, NM_004518.6:c.681C>T, NM_004518.6:c.681C>A, NM_004518.5:c.681C>T, NM_004518.5:c.681C>A, NM_004518.4:c.681C>T, NM_004518.4:c.681C>A, NM_172108.5:c.681C>T, NM_172108.5:c.681C>A, NM_172108.4:c.681C>T, NM_172108.4:c.681C>A, NM_172108.3:c.681C>T, NM_172108.3:c.681C>A, NM_172107.4:c.681C>T, NM_172107.4:c.681C>A, NM_172107.3:c.681C>T, NM_172107.3:c.681C>A, NM_172107.2:c.681C>T, NM_172107.2:c.681C>A, NM_172106.3:c.681C>T, NM_172106.3:c.681C>A, NM_172106.2:c.681C>T, NM_172106.2:c.681C>A, NM_172106.1:c.681C>T, NM_172106.1:c.681C>A, NM_172109.3:c.681C>T, NM_172109.3:c.681C>A, NM_172109.2:c.681C>T, NM_172109.2:c.681C>A, NM_172109.1:c.681C>T, NM_172109.1:c.681C>A, NM_001382235.1:c.681C>T, NM_001382235.1:c.681C>A, NT_187625.1:g.30790G>A, NT_187625.1:g.30790G>T, XM_017027841.3:c.681C>T, XM_017027841.3:c.681C>A, XM_017027841.2:c.681C>T, XM_017027841.2:c.681C>A, XM_017027841.1:c.681C>T, XM_017027841.1:c.681C>A, XM_011528811.3:c.681C>T, XM_011528811.3:c.681C>A, XM_011528811.2:c.681C>T, XM_011528811.2:c.681C>A, XM_011528811.1:c.681C>T, XM_011528811.1:c.681C>A, XM_017027842.3:c.681C>T, XM_017027842.3:c.681C>A, XM_017027842.2:c.681C>T, XM_017027842.2:c.681C>A, XM_017027842.1:c.681C>T, XM_017027842.1:c.681C>A, XM_017027844.3:c.681C>T, XM_017027844.3:c.681C>A, XM_017027844.2:c.681C>T, XM_017027844.2:c.681C>A, XM_017027844.1:c.681C>T, XM_017027844.1:c.681C>A, XM_017027843.2:c.612C>T, XM_017027843.2:c.612C>A, XM_017027843.1:c.612C>T, XM_017027843.1:c.612C>A, XM_047440144.1:c.681C>T, XM_047440144.1:c.681C>A, XM_047440145.1:c.681C>T, XM_047440145.1:c.681C>A

                              15.

                              rs1467331597 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                20:63407126 (GRCh38)
                                20:62038479 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:63407125:G:C
                                Gene:
                                KCNQ2 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000020.11:g.63407126G>C, NC_000020.10:g.62038479G>C, NG_009004.2:g.70515C>G, NM_004518.6:c.2053C>G, NM_004518.5:c.2053C>G, NM_004518.4:c.2053C>G, NM_172108.5:c.2044C>G, NM_172108.4:c.2044C>G, NM_172108.3:c.2044C>G, NM_172107.4:c.2137C>G, NM_172107.3:c.2137C>G, NM_172107.2:c.2137C>G, NM_172106.3:c.2083C>G, NM_172106.2:c.2083C>G, NM_172106.1:c.2083C>G, NM_001382235.1:c.2191C>G, XM_017027841.3:c.2188C>G, XM_017027841.2:c.2188C>G, XM_017027841.1:c.2188C>G, XM_011528811.3:c.2161C>G, XM_011528811.2:c.2161C>G, XM_011528811.1:c.2161C>G, XM_017027842.3:c.2125C>G, XM_017027842.2:c.2125C>G, XM_017027842.1:c.2125C>G, XM_017027844.3:c.2080C>G, XM_017027844.2:c.2080C>G, XM_017027844.1:c.2080C>G, XM_017027843.2:c.2122C>G, XM_017027843.1:c.2122C>G, XM_017027845.2:c.1153C>G, XM_017027845.1:c.1153C>G, XM_047440144.1:c.2158C>G, XM_047440145.1:c.2050C>G, NP_004509.2:p.Pro685Ala, NP_742106.1:p.Pro682Ala, NP_742105.1:p.Pro713Ala, NP_742104.1:p.Pro695Ala, NP_001369164.1:p.Pro731Ala, XP_016883330.1:p.Pro730Ala, XP_011527113.1:p.Pro721Ala, XP_016883331.1:p.Pro709Ala, XP_016883333.1:p.Pro694Ala, XP_016883332.1:p.Pro708Ala, XP_016883334.1:p.Pro385Ala, XP_047296100.1:p.Pro720Ala, XP_047296101.1:p.Pro684Ala

                                16.

                                rs1466824288 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  20:63415006 (GRCh38)
                                  20:62046359 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:63415005:C:T
                                  Gene:
                                  KCNQ2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000020.11:g.63415006C>T, NC_000020.10:g.62046359C>T, NG_009004.2:g.62635G>A, NM_004518.6:c.1338G>A, NM_004518.5:c.1338G>A, NM_004518.4:c.1338G>A, NM_172108.5:c.1332G>A, NM_172108.4:c.1332G>A, NM_172108.3:c.1332G>A, NM_172107.4:c.1422G>A, NM_172107.3:c.1422G>A, NM_172107.2:c.1422G>A, NM_172106.3:c.1368G>A, NM_172106.2:c.1368G>A, NM_172106.1:c.1368G>A, NM_001382235.1:c.1368G>A, NT_187625.1:g.286C>T, XM_017027841.3:c.1368G>A, XM_017027841.2:c.1368G>A, XM_017027841.1:c.1368G>A, XM_011528811.3:c.1338G>A, XM_011528811.2:c.1338G>A, XM_011528811.1:c.1338G>A, XM_017027842.3:c.1368G>A, XM_017027842.2:c.1368G>A, XM_017027842.1:c.1368G>A, XM_017027844.3:c.1368G>A, XM_017027844.2:c.1368G>A, XM_017027844.1:c.1368G>A, XM_017027843.2:c.1299G>A, XM_017027843.1:c.1299G>A, XM_017027845.2:c.330G>A, XM_017027845.1:c.330G>A, XM_047440145.1:c.1338G>A, XM_047440144.1:c.1338G>A

                                  17.

                                  rs1466524419 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:63446777 (GRCh38)
                                    20:62078130 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:63446776:C:T
                                    Gene:
                                    KCNQ2 (Varview), KCNQ2-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000020.11:g.63446777C>T, NC_000020.10:g.62078130C>T, NG_009004.2:g.30864G>A, NM_004518.6:c.357G>A, NM_004518.5:c.357G>A, NM_004518.4:c.357G>A, NM_172108.5:c.357G>A, NM_172108.4:c.357G>A, NM_172108.3:c.357G>A, NM_172107.4:c.357G>A, NM_172107.3:c.357G>A, NM_172107.2:c.357G>A, NM_172106.3:c.357G>A, NM_172106.2:c.357G>A, NM_172106.1:c.357G>A, NM_172109.3:c.357G>A, NM_172109.2:c.357G>A, NM_172109.1:c.357G>A, NM_001382235.1:c.357G>A, NT_187625.1:g.33179C>T, XM_017027841.3:c.357G>A, XM_017027841.2:c.357G>A, XM_017027841.1:c.357G>A, XM_011528811.3:c.357G>A, XM_011528811.2:c.357G>A, XM_011528811.1:c.357G>A, XM_017027842.3:c.357G>A, XM_017027842.2:c.357G>A, XM_017027842.1:c.357G>A, XM_017027844.3:c.357G>A, XM_017027844.2:c.357G>A, XM_017027844.1:c.357G>A, XM_017027843.2:c.288G>A, XM_017027843.1:c.288G>A, XM_047440144.1:c.357G>A, XM_047440145.1:c.357G>A

                                    18.

                                    rs1465109197 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      20:63414926 (GRCh38)
                                      20:62046279 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:63414925:G:A
                                      Gene:
                                      KCNQ2 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000020.11:g.63414926G>A, NC_000020.10:g.62046279G>A, NG_009004.2:g.62715C>T, NM_004518.6:c.1418C>T, NM_004518.5:c.1418C>T, NM_004518.4:c.1418C>T, NM_172108.5:c.1412C>T, NM_172108.4:c.1412C>T, NM_172108.3:c.1412C>T, NM_172107.4:c.1502C>T, NM_172107.3:c.1502C>T, NM_172107.2:c.1502C>T, NM_172106.3:c.1448C>T, NM_172106.2:c.1448C>T, NM_172106.1:c.1448C>T, NM_001382235.1:c.1448C>T, NT_187625.1:g.206G>A, XM_017027841.3:c.1448C>T, XM_017027841.2:c.1448C>T, XM_017027841.1:c.1448C>T, XM_011528811.3:c.1418C>T, XM_011528811.2:c.1418C>T, XM_011528811.1:c.1418C>T, XM_017027842.3:c.1448C>T, XM_017027842.2:c.1448C>T, XM_017027842.1:c.1448C>T, XM_017027844.3:c.1448C>T, XM_017027844.2:c.1448C>T, XM_017027844.1:c.1448C>T, XM_017027843.2:c.1379C>T, XM_017027843.1:c.1379C>T, XM_017027845.2:c.410C>T, XM_017027845.1:c.410C>T, XM_047440145.1:c.1418C>T, XM_047440144.1:c.1418C>T, NP_004509.2:p.Ala473Val, NP_742106.1:p.Ala471Val, NP_742105.1:p.Ala501Val, NP_742104.1:p.Ala483Val, NP_001369164.1:p.Ala483Val, XP_016883330.1:p.Ala483Val, XP_011527113.1:p.Ala473Val, XP_016883331.1:p.Ala483Val, XP_016883333.1:p.Ala483Val, XP_016883332.1:p.Ala460Val, XP_016883334.1:p.Ala137Val, XP_047296101.1:p.Ala473Val, XP_047296100.1:p.Ala473Val

                                      19.

                                      rs1459962137 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        20:63407299 (GRCh38)
                                        20:62038652 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:63407298:G:A,NC_000020.11:63407298:G:T
                                        Gene:
                                        KCNQ2 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        NC_000020.11:g.63407299G>A, NC_000020.11:g.63407299G>T, NC_000020.10:g.62038652G>A, NC_000020.10:g.62038652G>T, NG_009004.2:g.70342C>T, NG_009004.2:g.70342C>A, NM_004518.6:c.1880C>T, NM_004518.6:c.1880C>A, NM_004518.5:c.1880C>T, NM_004518.5:c.1880C>A, NM_004518.4:c.1880C>T, NM_004518.4:c.1880C>A, NM_172108.5:c.1871C>T, NM_172108.5:c.1871C>A, NM_172108.4:c.1871C>T, NM_172108.4:c.1871C>A, NM_172108.3:c.1871C>T, NM_172108.3:c.1871C>A, NM_172107.4:c.1964C>T, NM_172107.4:c.1964C>A, NM_172107.3:c.1964C>T, NM_172107.3:c.1964C>A, NM_172107.2:c.1964C>T, NM_172107.2:c.1964C>A, NM_172106.3:c.1910C>T, NM_172106.3:c.1910C>A, NM_172106.2:c.1910C>T, NM_172106.2:c.1910C>A, NM_172106.1:c.1910C>T, NM_172106.1:c.1910C>A, NM_001382235.1:c.2018C>T, NM_001382235.1:c.2018C>A, XM_017027841.3:c.2015C>T, XM_017027841.3:c.2015C>A, XM_017027841.2:c.2015C>T, XM_017027841.2:c.2015C>A, XM_017027841.1:c.2015C>T, XM_017027841.1:c.2015C>A, XM_011528811.3:c.1988C>T, XM_011528811.3:c.1988C>A, XM_011528811.2:c.1988C>T, XM_011528811.2:c.1988C>A, XM_011528811.1:c.1988C>T, XM_011528811.1:c.1988C>A, XM_017027842.3:c.1952C>T, XM_017027842.3:c.1952C>A, XM_017027842.2:c.1952C>T, XM_017027842.2:c.1952C>A, XM_017027842.1:c.1952C>T, XM_017027842.1:c.1952C>A, XM_017027844.3:c.1907C>T, XM_017027844.3:c.1907C>A, XM_017027844.2:c.1907C>T, XM_017027844.2:c.1907C>A, XM_017027844.1:c.1907C>T, XM_017027844.1:c.1907C>A, XM_017027843.2:c.1949C>T, XM_017027843.2:c.1949C>A, XM_017027843.1:c.1949C>T, XM_017027843.1:c.1949C>A, XM_017027845.2:c.980C>T, XM_017027845.2:c.980C>A, XM_017027845.1:c.980C>T, XM_017027845.1:c.980C>A, XM_047440144.1:c.1985C>T, XM_047440144.1:c.1985C>A, XM_047440145.1:c.1877C>T, XM_047440145.1:c.1877C>A, NP_004509.2:p.Thr627Ile, NP_004509.2:p.Thr627Asn, NP_742106.1:p.Thr624Ile, NP_742106.1:p.Thr624Asn, NP_742105.1:p.Thr655Ile, NP_742105.1:p.Thr655Asn, NP_742104.1:p.Thr637Ile, NP_742104.1:p.Thr637Asn, NP_001369164.1:p.Thr673Ile, NP_001369164.1:p.Thr673Asn, XP_016883330.1:p.Thr672Ile, XP_016883330.1:p.Thr672Asn, XP_011527113.1:p.Thr663Ile, XP_011527113.1:p.Thr663Asn, XP_016883331.1:p.Thr651Ile, XP_016883331.1:p.Thr651Asn, XP_016883333.1:p.Thr636Ile, XP_016883333.1:p.Thr636Asn, XP_016883332.1:p.Thr650Ile, XP_016883332.1:p.Thr650Asn, XP_016883334.1:p.Thr327Ile, XP_016883334.1:p.Thr327Asn, XP_047296100.1:p.Thr662Ile, XP_047296100.1:p.Thr662Asn, XP_047296101.1:p.Thr626Ile, XP_047296101.1:p.Thr626Asn

                                        20.

                                        rs1459078042 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          20:63415034 (GRCh38)
                                          20:62046387 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:63415033:C:T
                                          Gene:
                                          KCNQ2 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000020.11:g.63415034C>T, NC_000020.10:g.62046387C>T, NG_009004.2:g.62607G>A, NM_004518.6:c.1310G>A, NM_004518.5:c.1310G>A, NM_004518.4:c.1310G>A, NM_172108.5:c.1304G>A, NM_172108.4:c.1304G>A, NM_172108.3:c.1304G>A, NM_172107.4:c.1394G>A, NM_172107.3:c.1394G>A, NM_172107.2:c.1394G>A, NM_172106.3:c.1340G>A, NM_172106.2:c.1340G>A, NM_172106.1:c.1340G>A, NM_001382235.1:c.1340G>A, NT_187625.1:g.314C>T, XM_017027841.3:c.1340G>A, XM_017027841.2:c.1340G>A, XM_017027841.1:c.1340G>A, XM_011528811.3:c.1310G>A, XM_011528811.2:c.1310G>A, XM_011528811.1:c.1310G>A, XM_017027842.3:c.1340G>A, XM_017027842.2:c.1340G>A, XM_017027842.1:c.1340G>A, XM_017027844.3:c.1340G>A, XM_017027844.2:c.1340G>A, XM_017027844.1:c.1340G>A, XM_017027843.2:c.1271G>A, XM_017027843.1:c.1271G>A, XM_017027845.2:c.302G>A, XM_017027845.1:c.302G>A, XM_047440145.1:c.1310G>A, XM_047440144.1:c.1310G>A, NP_004509.2:p.Arg437Gln, NP_742106.1:p.Arg435Gln, NP_742105.1:p.Arg465Gln, NP_742104.1:p.Arg447Gln, NP_001369164.1:p.Arg447Gln, XP_016883330.1:p.Arg447Gln, XP_011527113.1:p.Arg437Gln, XP_016883331.1:p.Arg447Gln, XP_016883333.1:p.Arg447Gln, XP_016883332.1:p.Arg424Gln, XP_016883334.1:p.Arg101Gln, XP_047296101.1:p.Arg437Gln, XP_047296100.1:p.Arg437Gln

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...